检索结果 - Michelle Buscarilli

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  1. 1
    Phenotypic spectrum of Costello syndrome individuals harboring the rare <i>HRAS</i> mutation p.Gly13Asp

    Phenotypic spectrum of Costello syndrome individuals harboring the rare <i>HRAS</i> mutation p.Gly13Asp 由 Débora Romeo Bertola, Michelle Buscarilli, Deborah L. Stabley, Laura Baker, Daniel Doyle, Dennis W. Bartholomew, Katia Sol‐Church, Karen W. Gripp

    出版 2017
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  2. 2
    Isolated familial somatotropinoma: 11q13-loh and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis

    Isolated familial somatotropinoma: 11q13-loh and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis 由 Rodrigo A. Toledo, Berenice B. Mendonça, Maria Candida Barisson Villares Fragoso, Iberê Cauduro Soares, Madson Q. Almeida, Michelle Buscarilli de Moraes, Delmar Muniz Lourenço, Venâncio Avancini Ferreira Alves, Marcello D. Bronstein, S. P. A. Toledo

    出版 2010
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  3. 3
    Rare variants in<i>SOS2</i>and<i>LZTR1</i>are associated with Noonan syndrome

    Rare variants in<i>SOS2</i>and<i>LZTR1</i>are associated with Noonan syndrome 由 Guilherme Lopes Yamamoto, Meire Aguena, Monika Goś, Christina Hung, Jacek Pilch, Somayyeh Fahiminiya, Anna Abramowicz, Ingrid Cristian, Michelle Buscarilli, Michel Satya Naslavsky, Alexsandra C. Malaquias, Mayana Zatz, Olaf A. Bodamer, Jacek Majewski, Alexander A.L. Jorge, Alexandre C. Pereira, Chong Ae Kim, Maria Rita Passos‐Bueno, Débora Romeo Bertola

    出版 2015
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  4. 4
    Genotype and phenotype spectrum of NRAS germline variants

    Genotype and phenotype spectrum of NRAS germline variants 由 Franziska Altmüller, Christina Lißewski, Débora Romeo Bertola, Elisabetta Flex, Zornitza Stark, Stephanie Spranger, Gareth Baynam, Michelle Buscarilli, Sarah Dyack, Jane Gillis, Helger G. Yntema, Francesca Pantaleoni, Rosa LE van Loon, Sara MacKay, Kym Mina, Ina Schanze, Tiong Yang Tan, Maie Walsh, Susan M. White, Marena R. Niewisch, Sixto García‐Miñaúr, Diego Plaza, Mohammad Reza Ahmadian, Hélène Cavé, Marco Tartaglia, Martin Zenker

    出版 2017
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